Variant report

Variant	rs7135029
Chromosome Location	chr12:45690167-45690168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45687856..45690300-chr12:45690892..45693312,2	K562	blood:
2	chr12:45609373..45612977-chr12:45689152..45693084,3	MCF-7	breast:
3	chr12:45688734..45691523-chr12:45698194..45700456,2	K562	blood:
4	chr12:45684442..45687788-chr12:45687793..45692076,3	MCF-7	breast:
5	chr12:45685386..45687801-chr12:45690061..45692281,2	K562	blood:
6	chr12:45608691..45611153-chr12:45688156..45690579,2	K562	blood:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1004598	0.88[AFR][1000 genomes]
rs1019584	0.94[MKK][hapmap];0.83[AFR][1000 genomes]
rs1025088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10492285	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10736024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10748416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10748417	0.81[AFR][1000 genomes]
rs10748418	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10748420	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs10785559	0.83[AFR][1000 genomes]
rs10785564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785565	0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10785568	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10880773	0.87[AFR][1000 genomes]
rs11182971	0.83[AMR][1000 genomes]
rs11182980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238407	0.83[AFR][1000 genomes]
rs12578188	1.00[CEU][hapmap]
rs12578220	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12578314	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12579080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580320	1.00[CEU][hapmap]
rs12581525	1.00[CEU][hapmap]
rs12581554	1.00[CEU][hapmap]
rs12582025	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582369	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17095441	1.00[CEU][hapmap]
rs17095584	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17095688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17095713	1.00[CEU][hapmap]
rs17095716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095736	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs17095784	1.00[CEU][hapmap]
rs17095866	1.00[CEU][hapmap]
rs17095888	1.00[CEU][hapmap]
rs17095911	1.00[CEU][hapmap]
rs1862907	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1877972	0.83[AMR][1000 genomes]
rs1896027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913691	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs2037855	0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs2037856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3920257	1.00[CEU][hapmap]
rs41331147	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4489808	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4768087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768600	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768604	0.83[AMR][1000 genomes]
rs4768605	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582543	0.83[AMR][1000 genomes]
rs7136281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap]
rs7304749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486228	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953360	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7960422	0.91[AFR][1000 genomes]
rs7970250	0.97[MKK][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes]
rs7970619	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:45668600-45693000	Weak transcription	Pancreas	Pancrea
6	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45674400-45692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:45675800-45709000	Weak transcription	Lung	lung
9	chr12:45676200-45693000	Weak transcription	Fetal Stomach	stomach
10	chr12:45676400-45696000	Weak transcription	Fetal Thymus	thymus
11	chr12:45676400-45697800	Weak transcription	Dnd41	blood
12	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:45677000-45696000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
15	chr12:45677800-45691800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:45677800-45696000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:45678600-45691800	Weak transcription	HUVEC	blood vessel
18	chr12:45679200-45692200	Weak transcription	NHDF-Ad	bronchial
19	chr12:45679800-45692200	Weak transcription	NH-A	brain
20	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
21	chr12:45680200-45692600	Weak transcription	Fetal Intestine Large	intestine
22	chr12:45680400-45697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:45680800-45693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:45681000-45698200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:45681200-45697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:45684400-45692200	Weak transcription	Osteobl	bone
28	chr12:45684400-45693000	Weak transcription	Small Intestine	intestine
29	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
30	chr12:45684600-45692400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:45684800-45691800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:45685000-45693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:45685800-45697800	Weak transcription	GM12878-XiMat	blood
34	chr12:45685800-45698200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:45686000-45692200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:45686200-45707000	Weak transcription	Primary B cells from cord blood	blood
37	chr12:45686800-45692200	Weak transcription	NHLF	lung
38	chr12:45686800-45693000	Weak transcription	Left Ventricle	heart
39	chr12:45686800-45693200	Weak transcription	Ovary	ovary
40	chr12:45687000-45691800	Weak transcription	Fetal Lung	lung
41	chr12:45687000-45692200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:45687000-45692800	Weak transcription	HSMMtube	muscle
43	chr12:45687000-45697200	Weak transcription	Aorta	Aorta
44	chr12:45687200-45690800	Weak transcription	K562	blood
45	chr12:45687200-45692200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:45687200-45692200	Weak transcription	Adipose Nuclei	Adipose
47	chr12:45687200-45692600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:45687200-45693600	Enhancers	Fetal Heart	heart
49	chr12:45688000-45693000	Weak transcription	HMEC	breast
50	chr12:45688400-45692000	Weak transcription	Colon Smooth Muscle	Colon

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